Esther_Yoon (@yooonest) profile picture

Esther_Yoon

@yooonest

MD/PhD student @CarvillLab @NUFeinbergMed

Joined February 2023
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NEJM (@NEJM) profile picture
NEJM
@NEJM23 Oct 2024
Deletions in a gene (π˜Šπ˜π˜ˆπ˜šπ˜Œπ˜™π˜™) that encodes a long noncoding RNA cause severe developmental delay and an increase in expression of a neighboring gene, π˜Šπ˜π˜‹2. Read the Brief Report: nej.md/48gS1WY
Brief Report: Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene Facial features and findings on MRI of the brain in a child with CHASERR haploinsufficiency.

ALT Brief Report: Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene Facial features and findings on MRI of the brain in a child with CHASERR haploinsufficiency.

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Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (π˜Šπ˜π˜ˆπ˜šπ˜Œπ˜™π˜™) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧡1/10 nejm.org/doi/full/10.1056/NE…
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene | NEJM

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene | NEJM

CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our ...

nejm.org
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Absolutely amazing. 14 (!!!!) #WomenInSTEM @ICHG2023 #ICHG2023 changing the world. Love these inspiring, intelligent, fun friends/colleagues/collaborators in #epilepsy #genetics #RareDisease @CarvillLab
Image from Dr. Heather Mefford @hcmefford.bsky.social (@hcmefford)
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Sun, sea&science in Cape Town #ICHG2023 posters today by the team @Aish__Ram ME006 non-coding #FOXG1 SVs @jen_z_cheng ME003 #stemcell #CUX2 models & EstherYoon EP010 lncRNA regulation of #CHD2. Come learn more about their cool science in #epilepsy #genetics – at Cape Town, South Africa
Image from Gemma Carvill, PhD (@CarvillLab)
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